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Cellosaurus SMBCi014-A (CVCL_B7E2)

[Text version]
Cell line name SMBCi014-A
Accession CVCL_B7E2
Resource Identification Initiative To cite this cell line use: SMBCi014-A (RRID:CVCL_B7E2)
Comments From: Shandong Medical Biotechnological Center; Jinan; China.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; 2197; COL1A1; Simple; p.Pro817Leufs*291 (c.2450delC); ClinVar=VCV000035912; Zygosity=Heterozygous (PubMed=35660813).
Disease Osteogenesis imperfecta type I (NCIt: C99003)
Osteogenesis imperfecta type 1 (ORDO: Orphanet_216796)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 15Y
Category Induced pluripotent stem cell
Publications

PubMed=35660813; DOI=10.1016/j.scr.2022.102827
Luan J., Cui Y.-Z., Wang J., Liang Y.-C., Zhao Y.-N., Zhang G.-L., Han J.-X.
Generation of a non-integrated induced pluripotent stem cell line from urine cells of a Chinese osteogenesis imperfecta type I patient.
Stem Cell Res. 62:102827-102827(2022)

Cross-references
Cell line databases/resources hPSCreg; SMBCi014-A
Biological sample resources BioSamples; SAMEA13603429
Encyclopedic resources Wikidata; Q112930410
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4